ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.467C>T (p.Thr156Ile)

gnomAD frequency: 0.00001  dbSNP: rs745333631
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001865042 SCV002126575 uncertain significance Lymphoproliferative syndrome 2 2021-08-16 criteria provided, single submitter clinical testing This variant is present in population databases (rs745333631, ExAC 0.01%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CD27-related conditions. This sequence change replaces threonine with isoleucine at codon 156 of the CD27 protein (p.Thr156Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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